title: From expression QTLs to personalized transcriptomics.
abstract: Approaches that combine expression quantitative trait loci (eQTLs) and genome-wide association (GWA) studies are offering new functional information about the aetiology of complex human traits and diseases. Improved study designs--which take into account technological advances in resolving the transcriptome, cell history and state, population of origin and diverse endophenotypes--are providing insights into the architecture of disease and the landscape of gene regulation in humans. Furthermore, these advances are helping to establish links between cellular effects and organismal traits.
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel-Servet, Geneva 1211, Switzerland. Stephen.Montgomery@unige.ch
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Montgomery
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
mesh_terms: D058068:Endophenotypes; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D006801:Humans; D040641:Quantitative Trait Loci / Q000235:genetics*